DDHD2:Ensemblv90

DDHD domain containing 2
OMIM: 615003, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green DDHD2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.405	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebral Palsy Spastic paraplegia 54, autosomal recessive MIM# 615033
Green DDHD2 in Mendeliome Version 1.3802	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 54, autosomal recessive, MIM# 615033
Green DDHD2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes hereditary spastic paraplegia 54 MONDO:0014018
Green DDHD2 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.162 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132. Spastic paraplegia 54
Green DDHD2 in Hereditary Spastic Paraplegia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.17 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 54, autosomal recessive, MIM# 615033 MONDO:0014018
Green DDHD2 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 1.130 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 54, autosomal recessive, MIM# 615033 MONDO:0014018
Green DDHD2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 54, autosomal recessive, 615033 (3)
Red DDHD2 in Fetal anomalies Version 1.482	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Spastic paraplegia 54, autosomal recessive, MIM# 615033 MONDO:0014018
Green DDHD2 in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spastic paraplegia 54, autosomal recessive, MIM#615033
Green DDHD2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebral Palsy Spastic paraplegia 54, autosomal recessive MIM# 615033
Green DDHD2 in Hereditary Spastic Paraplegia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Spastic paraplegia 54, autosomal recessive, MIM# 615033 MONDO:0014018
Green DDHD2 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic paraplegia 54, autosomal recessive, MIM# 615033 MONDO:0014018
Green DDHD2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Spastic paraplegia 54, autosomal recessive, 615033 (3)
Green DDHD2 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Spastic paraplegia 54, autosomal recessive, MIM#615033